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Liver or Combined Liver-Kidney Transplantation for Patients with Isolated Methylmalonic Acidemia: Who and When?
The hereditary disorders of vitamin B12 (cobalamin) and methylmalonic acid metabolism comprise a major group of organic acid disorders that are collectively common inborn errors of metabolism.1 Affected patients are medically fragile and suffer multisystemic complications, such as lethal metabolic instability, metabolic stroke, pancreatitis, end-stage renal failure, growth impairment, osteopenia, optic nerve atrophy, and neurocognitive delay.2 The frequency of these complications and their precipitants, long-term sequelae, and optimal treatment regimens remain ill-defined.
Source: The Journal of Pediatrics - April 13, 2015 Category: Pediatrics Authors: Jennifer L. Sloan, Irini Manoli, Charles P. Venditti Tags: Editorial Source Type: research